N17S (p.Asn17Ser) variant of BBS1 (BBSome complex member BBS1)
N17S (p.Asn17Ser) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
N17S (p.Asn17Ser) variant details
- p.Asn17Ser
- gnomAD rs1231862256
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.24
- CADD 8.08
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available